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Khosravi,\ S.*\ ; Shoeibi,\ A.*\ ; Sadr-Nabavi,\ A.*\ ; Shariati,\ M.*\ ; Zech,\ M.\ ; Winkelmann,\ J.\ ; Lang,\ A.E.*\ ; Rohani,\ M.*
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AOPEP-related dystonia with supranuclear vertical gaze palsy.
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Mov. Disord. Clin. Pract., DOI: 10.1002/mdc3.70150 (2025)
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Schinwelski,\ M.*\ ; Krygier,\ M.*\ ; Sitek,\ E.J.*\ ; Mazurkiewicz-Bełdzińska,\ M.*\ ; Zech,\ M.
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New progressive generalized dystonia phenotype in a patient with NBEA-related neurodevelopmental disease.
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Mov. Disord. Clin. Pract. 12, 1184-1186 (2025)
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Badmann,\ S.*\ ; Castrop,\ F.*\ ; Brugger,\ M.*\ ; Winkelmann,\ J.\ ; Zech,\ M.
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Adult-onset parkinsonism as late manifestation of HIVEP2-associated developmental disorder.
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Mov. Disord. Clin. Pract., DOI: 10.1002/mdc3.14156 (2024)
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Dzinovic,\ I.\ ; Graf,\ E.*\ ; Brugger,\ M.*\ ; Berutti,\ R.\ ; Příhodová,\ I.*\ ; Blaschek,\ A.*\ ; Winkelmann,\ J.\ ; Jech,\ R.*\ ; Vill,\ K.*\ ; Zech,\ M.
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Challenges in establishing the diagnosis of \PRRT2\-related dystonia: Recurrent pathogenic variants in a homopolymeric stretch.
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Mov. Disord. Clin. Pract. 10, 1159-1161 (2023)
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Monfrini,\ E.*\ ; Avanzino,\ L.*\ ; Palermo,\ G.*\ ; Bonato,\ G.*\ ; Brescia,\ G.*\ ; Ceravolo,\ R.*\ ; Cantarella,\ G.*\ ; Mandich,\ P.*\ ; Prokisch,\ H.\ ; Storm van\'s Gravesande,\ K.*\ ; Straccia,\ G.*\ ; Elia,\ A.E.*\ ; Reale,\ C.*\ ; Panteghini,\ C.*\ ; Zorzi,\ G.*\ ; Eleopra,\ R.*\ ; Erro,\ R.*\ ; Carecchio,\ M.*\ ; Garavaglia,\ B.*\ ; Zech,\ M.\ ; Romito,\ L.*\ ; Di Fonzo,\ A.*
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Dominant \VPS16\ pathogenic variants: Not only isolated dystonia.
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Mov. Disord. Clin. Pract. 11, 87-93 (2023)
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Danhofer,\ P.*\ ; Zech,\ M.\ ; Bálintová,\ Z.*\ ; Baláž,\ M.*\ ; Jech,\ R.*\ ; Ošlejšková,\ H.*
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Brittle biballism-dystonia in a pediatric patient with GNAO1 mutation managed using pallidal deep brain stimulation.
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Mov. Disord. Clin. Pract. 8, 153-155 (2021)
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Hübers,\ A.*\ ; Huppertz,\ H.J.*\ ; Wortmann,\ S.B.\ ; Kassubek,\ J.*
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Mutation of the \WARS2\ gene as the cause of a severe hyperkinetic movement disorder.
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Mov. Disord. Clin. Pract. 7, 88-90 (2020)
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Necpál,\ J.*\ ; Zech,\ M.\ ; Škorvánek,\ M.*\ ; Havránková,\ P.*\ ; Fečíková,\ A.*\ ; Winkelmann,\ J.\ ; Jech,\ R.*
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Ataxia telangiectasia gene mutation in isolated segmental dystonia without ataxia and telangiectasia.
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Mov. Disord. Clin. Pract. 5, 89-91 (2018)
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Schulte,\ E.C.\ ; Kaffe,\ M.*\ ; Schormair,\ B.\ ; Winkelmann,\ J.
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Iron in restless legs syndrome.
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Mov. Disord. Clin. Pract. 1, 161-172 (2014)
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